Nettore, 2013: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
BRA
|
17
|
n.a.
|
Yes
|
Chorea
-Motor |
Chorea
|
|
No
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
Yes
|
Chorea
Hypothyroidism |
||
No
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
Yes
|
-Motor
Chorea Hypothyroidism |
Chorea
|
|
No
|
♂
|
n.a.
|
BRA
|
22
|
n.a.
|
Yes
|
Dystonia
Chorea Dystonia, cervical Dystonia (any or unspecified) -Motor Hypothyroidism Show more (+3) |
Dystonia, cervical
Hypothyroidism |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
Yes
|
Delayed gross motor development
Developmental delay Hypothyroidism -Motor Gait impairment Motor delay Cerebellar signs Chorea Delayed fine motor development Global developmental delay Ataxia Show more (+8) |
Motor delay
Chorea |